Highlights
- •We identified one de novo novel mutation in KCNJ2 gene in a Chinese patient with Andersen–Tawil syndrome.
- •The patient demonstrated left ventricular hypertrophy in the echocardiography.
- •The patient had no concomitant cardiac symptom and abnormity in ECG.
Keywords
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References
- Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.Cell. 2001; 105: 511-519
- A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1.Neurology. 2014; 82: 1058-1064
- Defective potassium channel Kir2.1 trafficking underlies Andersen–Tawil syndrome.J Biol Chem. 2003; 278: 51779-51785
- PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.Neurology. 2003; 60: 1811-1816
- Alterations in conserved Kir channel–PIP2 interactions underlie channelopathies.Neuron. 2002; 34: 933-944
- Inwardly rectifying potassium channels: their structure, function, and physiological roles.Physiol Rev. 2010; 90: 291-366
- Mutations of KCNJ2 gene associated with Andersen–Tawil syndrome in Korean families.J Hum Genet. 2007; 52: 280-283
- Genotype–phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen–Tawil syndrome.Hum Mutat. 2007; 28: 208
- The primary periodic paralyses: diagnosis, pathogenesis and treatment.Brain J Neurol. 2006; 129: 8-17
Article info
Publication history
Published online: February 20, 2015
Accepted:
February 13,
2015
Received in revised form:
February 7,
2015
Received:
November 29,
2014
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
